Protocol Title: Safety and Feasibility of Autologous CD34+ Hematopoietic Stem Cells Mobilization and Apheresis in Participants With RUNX1 Familial Platelet Disorder
To evaluate the safety and feasibility of collecting hematopoietic stem cells (HSC) in participants with RUNX1-FPD.
‣ Participants who meet all of the following criteria are eligible to be included in the study:
• Are aged ≥ 18 to 75 years
• a. Once a favorable review of safety has been completed by the SMC in 3 participants aged ≥ 18 years, the study will be opened to participants aged ≥ 12 years.
• Are willing and able to provide informed consent, as appropriate (either directly or through a legally authorized representative \[LAR\]), as described in Appendix 1, Section 13.1
• Have a confirmed diagnosis of RUNX1 FPD, verified by a Clinical Laboratory Improvement Amendments (CLIA)-certified genetic sequencing report.
• Clearance by apheresis team to proceed
• Have systolic blood pressure ≤ 170 mm Hg and diastolic blood pressure ≤ 95 mmHg
• Are eligible for HSCT per institution requirements
• Have a Lansky (age \< 16 years)/Karnofsky performance status of ≥ 70 (see Appendix 2, Section 13.2).
• Are willing and able to comply with protocol-defined contraceptive requirements (see Appendix 3 Section 13.3)
• Have a platelet count ≥ 50,000/μL for initiation of apheresis, assessed within 24 hours prior to the procedure, or, if \< 50,000/μL are administered platelets on the day of the collection
• a. If the apheresis team decides that a central venous catheter (CVC) is to be placed, platelet count should be ≥ 50,000 prior to catheter placement.
⁃ Have hemoglobin ≥ 7.5 g/dL as assessed within 24 hours prior to the procedure